Gene Gene information from NCBI Gene database.
Entrez ID 9519
Gene name TATA-box binding protein like 1
Gene symbol TBPL1
Synonyms (NCBI Gene)
MGC:8389MGC:9620STUDTLFTLPTRF2
Chromosome 6
Chromosome location 6q23.2
Summary This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the
miRNA miRNA information provided by mirtarbase database.
508
miRTarBase ID miRNA Experiments Reference
MIRT021391 hsa-miR-9-5p Microarray 17612493
MIRT030363 hsa-miR-24-3p Microarray 19748357
MIRT042456 hsa-miR-424-5p CLASH 23622248
MIRT698692 hsa-miR-542-3p HITS-CLIP 23313552
MIRT698691 hsa-miR-3675-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IDA 15767669
GO:0001673 Component Male germ cell nucleus IEA
GO:0001675 Process Acrosome assembly IEA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24835508, 25416956, 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605521 11589 ENSG00000028839
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62380
Protein name TATA box-binding protein-like 1 (TBP-like 1) (21 kDa TBP-like protein) (Second TBP of unique DNA protein) (STUD) (TATA box-binding protein-related factor 2) (TBP-related factor 2) (TBP-like factor) (TBP-related protein)
Protein function Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00352 TBP 10 91 Transcription factor TFIID (or TATA-binding protein, TBP) Domain
PF00352 TBP 99 180 Transcription factor TFIID (or TATA-binding protein, TBP) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in the testis and ovary. {ECO:0000269|PubMed:10082669, ECO:0000269|PubMed:17570761}.
Sequence
Sequence length 186
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Basal transcription factors
Huntington disease
Spinocerebellar ataxia
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 11123427, 11179492
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 16786598, 17643074
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 24648608
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 29121401
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30836174
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28839241
★☆☆☆☆
Found in Text Mining only
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome BEFREE 10607831
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28808664
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 15905204
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15609312, 17616810, 24839003
★☆☆☆☆
Found in Text Mining only